Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome

Abstract

By identifying >70 novel homozygous or compound heterozygous genetic variants in 124 patients with CS with different disease severity and ethnic backgrounds, we considerably broaden the <i>CSA</i> and <i>CSB</i> mutation spectrum responsible for CS. Besides providing information relevant for diagnosis of and genetic counselling for this devastating disorder, this study improves the definition of the puzzling genotype-phenotype relationships in patients with CS.